A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606553



Internal ID16393962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550705..31551888hg38UCSC Ensembl
Innerchr7:31590319..31591502hg19UCSC Ensembl
Innerchr7:31556844..31558027hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381184
hg191184
hg181184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11264n54
Supporting Variantsnssv1082352
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606553
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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